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Figure 2 | Diagnostic Pathology

Figure 2

From: Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family

Figure 2

The LP family pedigree and DNA sequence analysis. (A) A multigenerational consanguineous Pakistani family in which lipoid proteinosis (LP) is segregating as an autosomal recessive trait. (B) The electropherogram of an affected member revealed a homozygous C > T transition at nucleotide position c.616 in exon 6 while father's electropherogram revealed heterozygosity at the same position.

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Diagnostic Pathology

ISSN: 1746-1596

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